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Wilms' tumor with an apparently balanced translocation t(X;18) resulting in deletion of the WTX gene
Author(s) -
Han Moonjoo,
Rivera Miguel N.,
Batten Julie M.,
Haber Daniel A.,
Cin Paola Dal,
Iafrate A. John
Publication year - 2007
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20476
Subject(s) - biology , chromosomal translocation , fluorescence in situ hybridization , wilms' tumor , comparative genomic hybridization , tumor suppressor gene , fusion gene , oncogene , carcinogenesis , karyotype , retinoblastoma , genetics , chromosome 22 , cancer research , chromosome , microbiology and biotechnology , gene , cell cycle
The recent description of a new X chromosome tumor suppressor gene, WTX , that is commonly inactivated in Wilms' tumor prompted us to examine the possible involvement of WTX in a case of Wilms' tumor containing an apparently balanced reciprocal translocation between chromosomes X and 18 (t(X;18)(q11;p11)). Fluorescence in situ hybridization (FISH) analysis of paraffin tumor sections indeed revealed a deletion of the WTX locus at Xq11. High‐resolution array comparative genomic hybridization (array CGH) analysis of tumor DNA revealed a 1.5 Mb chromosome deletion encompassing the WTX gene at Xq11. No loss of genetic material was detected on chromosome 18. Interestingly, unlike most tumors with acquired chromosomal translocations, where a new fusion oncogene or promoter‐oncogene fusion is created and drives tumor growth, the t(X;18) in this tumor appears to drive tumorigenesis via deletion of a tumor suppressor. This case demonstrates the importance of array CGH and FISH as adjuncts in tumor cytogenetics and in identifying pathogenic microdeletions in “balanced” translocations that are not truly balanced. © 2007 Wiley‐Liss, Inc.